Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000746	HP:0000746	Delusions	0	APOL2 CL E G H	23780	619	OMIM:181500	SCHIZOPHRENIA	.
HP:0000746	HP:0000746	Delusions	0	APOL4 CL E G H	80832	14867	OMIM:181500	SCHIZOPHRENIA	.
HP:0000746	HP:0000746	Delusions	0	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.	253
HP:0000746	HP:0000746	Delusions	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent	253
HP:0000746	HP:0000746	Delusions	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional	253
HP:0000746	HP:0000746	Delusions	0	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040283 - Occasional	253
HP:0000746	HP:0000746	Delusions	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0000746	HP:0000746	Delusions	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0000746	HP:0000746	Delusions	0	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	.	56
HP:0000746	HP:0000746	Delusions	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0000746	HP:0000746	Delusions	0	CHI3L1 CL E G H	1116	1932	OMIM:181500	SCHIZOPHRENIA	.	1
HP:0000746	HP:0000746	Delusions	0	COMT CL E G H	1312	2228	OMIM:181500	SCHIZOPHRENIA	.	6
HP:0000746	HP:0000746	Delusions	0	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria		72
HP:0000746	HP:0000746	Delusions	0	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids		149
HP:0000746	HP:0000746	Delusions	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis	.	114
HP:0000746	HP:0000746	Delusions	0	DAOA CL E G H	267012	21191	OMIM:181500	SCHIZOPHRENIA	.
HP:0000746	HP:0000746	Delusions	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0000746	HP:0000746	Delusions	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0000746	HP:0000746	Delusions	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0000746	HP:0000746	Delusions	0	DISC2 CL E G H	27184	2889	OMIM:181500	SCHIZOPHRENIA	.
HP:0000746	HP:0000746	Delusions	0	DRD3 CL E G H	1814	3024	OMIM:181500	SCHIZOPHRENIA	.	21
HP:0000746	HP:0000746	Delusions	0	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease		14
HP:0000746	HP:0000746	Delusions	0	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	42
HP:0000746	HP:0000746	Delusions	0	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	24
HP:0000746	HP:0000746	Delusions	0	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	32
HP:0000746	HP:0000746	Delusions	0	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	38
HP:0000746	HP:0000746	Delusions	0	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	48
HP:0000746	HP:0000746	Delusions	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0000746	HP:0000746	Delusions	0	FMO3 CL E G H	2328	3771	ORPHA:468726	Severe primary trimethylaminuria		55
HP:0000746	HP:0000746	Delusions	0	GBA1 CL E G H	2629	4177	OMIM:127750	Dementia, lewy body	.
HP:0000746	HP:0000746	Delusions	0	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease	.
HP:0000746	HP:0000746	Delusions	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria		81
HP:0000746	HP:0000746	Delusions	0	HTR2A CL E G H	3356	5293	OMIM:181500	SCHIZOPHRENIA	.	4
HP:0000746	HP:0000746	Delusions	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0000746	HP:0000746	Delusions	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040282 - Frequent	12
HP:0000746	HP:0000746	Delusions	0	IMPA1 CL E G H	3612	6050	OMIM:617323	Mental retardation, autosomal recessive 59		1
HP:0000746	HP:0000746	Delusions	0	JPH3 CL E G H	57338	14203	OMIM:606438	Huntington disease-like 2	.	2
HP:0000746	HP:0000746	Delusions	0	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040283 - Occasional	136
HP:0000746	HP:0000746	Delusions	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0000746	HP:0000746	Delusions	0	MTHFR CL E G H	4524	7436	OMIM:181500	SCHIZOPHRENIA	.	183
HP:0000746	HP:0000746	Delusions	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0000746	HP:0000746	Delusions	0	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040283 - Occasional	133
HP:0000746	HP:0000746	Delusions	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata		41
HP:0000746	HP:0000746	Delusions	0	PPP2R2B CL E G H	5521	9305	OMIM:604326	Spinocerebellar ataxia 12	.	5
HP:0000746	HP:0000746	Delusions	0	PRDM8 CL E G H	56978	13993	ORPHA:324290	Early-onset Lafora body disease		1
HP:0000746	HP:0000746	Delusions	0	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10		1
HP:0000746	HP:0000746	Delusions	0	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease	.	69
HP:0000746	HP:0000746	Delusions	0	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040282 - Frequent	69
HP:0000746	HP:0000746	Delusions	0	PRNP CL E G H	5621	9449	OMIM:603218	Huntington disease-like 1	.	69
HP:0000746	HP:0000746	Delusions	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040283 - Occasional	69
HP:0000746	HP:0000746	Delusions	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent	81
HP:0000746	HP:0000746	Delusions	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional	81
HP:0000746	HP:0000746	Delusions	0	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040283 - Occasional	81
HP:0000746	HP:0000746	Delusions	0	RTN4R CL E G H	65078	18601	OMIM:181500	SCHIZOPHRENIA	.	2
HP:0000746	HP:0000746	Delusions	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent	82
HP:0000746	HP:0000746	Delusions	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040282 - Frequent	1
HP:0000746	HP:0000746	Delusions	0	SNCA CL E G H	6622	11138	OMIM:127750	Dementia, lewy body	.	65
HP:0000746	HP:0000746	Delusions	0	SNCA CL E G H	6622	11138	OMIM:605543	Parkinson disease 4		65
HP:0000746	HP:0000746	Delusions	0	SNCB CL E G H	6620	11140	OMIM:127750	Dementia, lewy body	.	2
HP:0000746	HP:0000746	Delusions	0	SYN2 CL E G H	6854	11495	OMIM:181500	SCHIZOPHRENIA	.	3
HP:0000746	HP:0000746	Delusions	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17		7
HP:0000746	HP:0000746	Delusions	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0000746	HP:0000746	Delusions	0	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome		15
HP:0000746	HP:0000746	Delusions	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0000746	HP:0000746	Delusions	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0000746	HP:0000746	Delusions	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0000746	HP:0000746	Delusions	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0000746	HP:0011999	Paranoia	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0000746	HP:0011999	Paranoia	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0000746	HP:0011999	Paranoia	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0000746	HP:0011999	Paranoia	1	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria	.	72
HP:0000746	HP:0011999	Paranoia	1	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome	.
HP:0000746	HP:0011999	Paranoia	1	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome	.
HP:0000746	HP:0011999	Paranoia	1	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome	.
HP:0000746	HP:0011999	Paranoia	1	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease	.	14
HP:0000746	HP:0011999	Paranoia	1	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome	.
HP:0000746	HP:0011999	Paranoia	1	FMO3 CL E G H	2328	3771	ORPHA:468726	Severe primary trimethylaminuria	HP:0040283 - Occasional	55
HP:0000746	HP:0011999	Paranoia	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional	81
HP:0000746	HP:0011999	Paranoia	1	IMPA1 CL E G H	3612	6050	OMIM:617323	Mental retardation, autosomal recessive 59	.	1
HP:0000746	HP:0011999	Paranoia	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0000746	HP:0011999	Paranoia	1	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040283 - Occasional	133
HP:0000746	HP:0011999	Paranoia	1	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040284 - Very rare	41
HP:0000746	HP:0011999	Paranoia	1	PRDM8 CL E G H	56978	13993	ORPHA:324290	Early-onset Lafora body disease	HP:0040284 - Very rare	1
HP:0000746	HP:0011999	Paranoia	1	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10		1
HP:0000746	HP:0011999	Paranoia	1	SNCA CL E G H	6622	11138	OMIM:605543	Parkinson disease 4	.	65
HP:0000746	HP:0011999	Paranoia	1	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.	7
HP:0000746	HP:0011999	Paranoia	1	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome	.	32
HP:0000746	HP:0011999	Paranoia	1	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040283 - Occasional	15
HP:0000746	HP:0011999	Paranoia	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0000746	HP:0011999	Paranoia	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0000746	HP:0011999	Paranoia	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0000746	HP:0011999	Paranoia	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional	130